Jabs EW - Search Results

1

Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families.

Wu RL, Lawson CS, Jabs EW, Sanderson SC. Wu RL, et al. Among authors: jabs ew. Am J Med Genet A. 2012 Jul;158A(7):1556-67. doi: 10.1002/ajmg.a.35379. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628272

2

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

Shoo BA, McPherson E, Jabs EW. Shoo BA, et al. Among authors: jabs ew. Am J Med Genet A. 2004 Apr 1;126A(1):84-8. doi: 10.1002/ajmg.a.20488. Am J Med Genet A. 2004. PMID: 15039977

3

Reasons for participating and genetic information needs among racially and ethnically diverse biobank participants: a focus group study.

Streicher SA, Sanderson SC, Jabs EW, Diefenbach M, Smirnoff M, Peter I, Horowitz CR, Brenner B, Richardson LD. Streicher SA, et al. Among authors: jabs ew. J Community Genet. 2011 Sep;2(3):153-63. doi: 10.1007/s12687-011-0052-2. Epub 2011 Jun 7. J Community Genet. 2011. PMID: 22109822 Free PMC article.

4

Genetic and lifestyle causal beliefs about obesity and associated diseases among ethnically diverse patients: a structured interview study.

Sanderson SC, Diefenbach MA, Streicher SA, Jabs EW, Smirnoff M, Horowitz CR, Zinberg R, Clesca C, Richardson LD. Sanderson SC, et al. Among authors: jabs ew. Public Health Genomics. 2013;16(3):83-93. doi: 10.1159/000343793. Epub 2012 Dec 12. Public Health Genomics. 2013. PMID: 23235350 Free PMC article.

5

Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study.

Sanderson SC, Diefenbach MA, Zinberg R, Horowitz CR, Smirnoff M, Zweig M, Streicher S, Jabs EW, Richardson LD. Sanderson SC, et al. Among authors: jabs ew. J Community Genet. 2013 Oct;4(4):469-82. doi: 10.1007/s12687-013-0154-0. Epub 2013 Jun 22. J Community Genet. 2013. PMID: 23794263 Free PMC article.

6

Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public.

Sanderson SC, Suckiel SA, Zweig M, Bottinger EP, Jabs EW, Richardson LD. Sanderson SC, et al. Among authors: jabs ew. Genet Med. 2016 May;18(5):501-12. doi: 10.1038/gim.2015.118. Epub 2015 Sep 3. Genet Med. 2016. PMID: 26334178 Free PMC article.

7

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium; Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Telegrafi A, et al. Among authors: jabs ew. Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777491 Free PMC article.

8

Mild mandibulofacial dysostosis in a child with a deletion of 3p.

Arn PH, Mankinen C, Jabs EW. Arn PH, et al. Among authors: jabs ew. Am J Med Genet. 1993 Jun 15;46(5):534-6. doi: 10.1002/ajmg.1320460515. Am J Med Genet. 1993. PMID: 8322816

9

Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.

Isaac C, Marsh KL, Paznekas WA, Dixon J, Dixon MJ, Jabs EW, Meier UT. Isaac C, et al. Among authors: jabs ew. Mol Biol Cell. 2000 Sep;11(9):3061-71. doi: 10.1091/mbc.11.9.3061. Mol Biol Cell. 2000. PMID: 10982400 Free PMC article.

10

Parental origin of mutations in sporadic cases of Treacher Collins syndrome.

Splendore A, Jabs EW, Félix TM, Passos-Bueno MR. Splendore A, et al. Among authors: jabs ew. Eur J Hum Genet. 2003 Sep;11(9):718-22. doi: 10.1038/sj.ejhg.5201029. Eur J Hum Genet. 2003. PMID: 12939661

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